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519529
519529
http://dx.doi.org/10.1086/519529
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)
P356
Q24337506-DF8C6A1A-30A7-4E3C-88A7-603F3A90B9C1
P356
519529
http://dx.doi.org/10.1086/519529